Albany, NY -- (SBWire) -- 08/02/2018 --Lesch–Nyhan Syndrome (LNS) is a rare genetic disorder caused by mutation of the HPRT1 gene. Mutation of the gene leads to deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase 1. Insufficient level of this enzyme leads to overproduction and accumulation of uric acid in bodily fluids. Accumulation of uric acid damages the kidneys, the central nervous system, the joints, and other tissues. The excessive level of uric acid may cause gouty arthritis, kidney stone, or bladder stones.

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It may also lead to abnormal movements of involuntary muscles such as jerking, flexing, and flailing. It may cause behavioral disturbances. People suffering from Lesch–Nyhan Syndrome generally cannot walk, need assistance to sit, and mostly need a wheelchair. Self-injuries such as head banging and biting is the most common and typical behavioral pattern observed in patients with Lesch–Nyhan Syndrome. The condition primarily affects men, as the HPRT1 gene is located on the X chromosome. However, a few cases are reported in women also. The rate of prevalence of LNS is around 1 in 380,000 people.

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